Incidental Mutation 'IGL02319:Cd59a'
ID 288152
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd59a
Ensembl Gene ENSMUSG00000032679
Gene Name CD59a antigen
Synonyms Cd59, protectin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02319
Quality Score
Status
Chromosome 2
Chromosomal Location 103926146-103945699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103944373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 74 (I74F)
Ref Sequence ENSEMBL: ENSMUSP00000132774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040423] [ENSMUST00000168176]
AlphaFold O55186
Predicted Effect possibly damaging
Transcript: ENSMUST00000040423
AA Change: I74F

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000048041
Gene: ENSMUSG00000032679
AA Change: I74F

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 107 2.53e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153312
Predicted Effect possibly damaging
Transcript: ENSMUST00000168176
AA Change: I74F

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000132774
Gene: ENSMUSG00000032679
AA Change: I74F

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 107 2.53e-25 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal complement pathway, abnormal response to injury, altered susceptibility to viral infection, and abnormal CD4+ T cell morphology and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T C 10: 106,784,611 (GRCm39) Y537C probably damaging Het
Ambra1 A G 2: 91,717,265 (GRCm39) H854R probably damaging Het
Atf7ip A G 6: 136,570,116 (GRCm39) N981S probably benign Het
Atp6v1d A G 12: 78,908,230 (GRCm39) S2P probably damaging Het
Chek2 T C 5: 111,014,877 (GRCm39) Y449H possibly damaging Het
Ctif C T 18: 75,654,944 (GRCm39) probably benign Het
Dnaaf3 T C 7: 4,526,946 (GRCm39) E403G probably damaging Het
Dock1 T G 7: 134,374,178 (GRCm39) V608G possibly damaging Het
Fcf1 T C 12: 85,017,982 (GRCm39) probably null Het
Fgf17 T G 14: 70,874,183 (GRCm39) Q202P possibly damaging Het
Hnrnpm A T 17: 33,868,924 (GRCm39) L501Q probably damaging Het
Itgb4 G A 11: 115,879,752 (GRCm39) V635I probably damaging Het
Klra6 A T 6: 130,002,177 (GRCm39) S2R probably damaging Het
Krtap19-9b T A 16: 88,729,002 (GRCm39) Y33F unknown Het
Lpcat4 G A 2: 112,074,229 (GRCm39) V264M probably damaging Het
Lyzl6 T C 11: 103,525,862 (GRCm39) Y86C probably damaging Het
Myo18b T C 5: 112,939,005 (GRCm39) K1669E probably damaging Het
Nbea A G 3: 55,893,159 (GRCm39) V1558A probably damaging Het
Or51a42 A G 7: 103,708,140 (GRCm39) I223T probably damaging Het
Or51l14 G A 7: 103,101,474 (GRCm39) C310Y probably benign Het
Or5b105 A G 19: 13,080,026 (GRCm39) I214T probably benign Het
Or8b47 T A 9: 38,435,166 (GRCm39) I46N probably damaging Het
Pex11b T C 3: 96,550,885 (GRCm39) probably benign Het
Rbm5 A T 9: 107,621,064 (GRCm39) L689* probably null Het
Rd3 G T 1: 191,715,452 (GRCm39) G76C probably null Het
Rgs16 A T 1: 153,617,852 (GRCm39) I121F probably damaging Het
Tmem30a A T 9: 79,681,485 (GRCm39) M264K probably damaging Het
Traf2 T C 2: 25,426,695 (GRCm39) E127G probably damaging Het
Trmt11 A T 10: 30,436,869 (GRCm39) D290E probably damaging Het
Wdr35 C A 12: 9,077,480 (GRCm39) probably benign Het
Wnk2 A G 13: 49,214,914 (GRCm39) S1211P possibly damaging Het
Other mutations in Cd59a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00709:Cd59a APN 2 103,944,425 (GRCm39) missense probably benign 0.00
R3030:Cd59a UTSW 2 103,941,160 (GRCm39) missense probably benign 0.02
R4445:Cd59a UTSW 2 103,941,163 (GRCm39) missense probably benign 0.00
R4834:Cd59a UTSW 2 103,944,431 (GRCm39) missense probably damaging 0.97
R5887:Cd59a UTSW 2 103,934,546 (GRCm39) missense probably damaging 0.96
R6261:Cd59a UTSW 2 103,934,550 (GRCm39) missense probably damaging 0.99
R6328:Cd59a UTSW 2 103,941,103 (GRCm39) missense probably damaging 0.99
Z1176:Cd59a UTSW 2 103,934,543 (GRCm39) missense probably benign 0.13
Posted On 2015-04-16